Genes associated with “FXTAS”
How are genes scored? (0–100 composite)
Strong Candidates
1 geneConsider
9 genesFRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
sodium voltage-gated channel alpha subunit 8
peripheral myelin protein 22
Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
gamma-aminobutyric acid type A receptor subunit alpha1
gamma-aminobutyric acid type A receptor subunit beta3
spectrin beta, non-erythrocytic 4
ATPase plasma membrane Ca2+ transporting 2
?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
Possible
23 genes — click to expand
Neuronal intranuclear inclusion disease
glutamate metabotropic receptor 1
methyl-CpG binding protein 2
CUGBP- AND ELAV-LIKE FAMILY, MEMBER 1; CELF1
gamma-aminobutyric acid type A receptor subunit alpha5
ataxin 7
gamma-aminobutyric acid type A receptor subunit gamma2
cystatin B
reelin
aspartoacylase
gamma-aminobutyric acid type A receptor subunit beta2
prosaposin
dystonin
potassium voltage-gated channel subfamily A member 1
ATP/GTP binding carboxypeptidase 1
galactosylceramidase
calcium voltage-gated channel subunit alpha1 A
gamma-aminobutyric acid type A receptor subunit delta
zinc finger protein 423
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.